Variant report

Variant	rs6785031
Chromosome Location	chr3:47595879-47595880
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47559554..47562516-chr3:47592934..47596290,3	K562	blood:

Extended variants
information (count: 116 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs1014228	0.84[CEU][hapmap];0.85[YRI][hapmap];0.82[EUR][1000 genomes]
rs10865948	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11130138	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11130139	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11130143	0.88[CEU][hapmap];0.88[CHB][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11130144	0.88[CEU][hapmap];0.88[CHB][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11130145	0.82[AMR][1000 genomes]
rs11130146	0.88[CEU][hapmap];0.88[CHB][hapmap];0.89[YRI][hapmap];0.83[AMR][1000 genomes]
rs11130147	0.81[AMR][1000 genomes]
rs11130148	0.88[CEU][hapmap];0.88[CHB][hapmap]
rs11712464	0.88[CEU][hapmap]
rs11714942	0.82[AMR][1000 genomes]
rs11716582	0.88[CEU][hapmap];0.88[CHB][hapmap];0.89[YRI][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11929303	0.83[EUR][1000 genomes]
rs12489865	0.88[CEU][hapmap];0.85[YRI][hapmap]
rs12492915	0.87[AMR][1000 genomes]
rs12495204	0.84[CEU][hapmap];0.81[CHB][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes]
rs12497921	0.83[AMR][1000 genomes]
rs12498027	0.85[AMR][1000 genomes]
rs12635438	0.88[CEU][hapmap]
rs12636198	0.88[EUR][1000 genomes]
rs12636863	0.85[AMR][1000 genomes]
rs13061412	0.87[CEU][hapmap];0.82[AMR][1000 genomes]
rs13063042	0.89[CEU][hapmap];0.84[YRI][hapmap];0.81[AMR][1000 genomes]
rs13064183	0.82[AMR][1000 genomes]
rs13081356	0.82[AMR][1000 genomes]
rs13084555	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13085978	0.84[EUR][1000 genomes]
rs13086149	0.84[AMR][1000 genomes]
rs13091913	0.81[AMR][1000 genomes]
rs13094264	0.88[CEU][hapmap];0.81[CHB][hapmap]
rs13098128	0.83[AMR][1000 genomes]
rs1403578	0.88[CEU][hapmap];0.88[CHB][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1403579	0.88[CEU][hapmap];0.87[CHB][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1464614	0.88[CEU][hapmap];0.88[CHB][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1486915	0.83[AMR][1000 genomes]
rs17079785	0.88[CEU][hapmap];0.88[CHB][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes]
rs2030596	0.83[AMR][1000 genomes]
rs2047559	0.89[CEU][hapmap];0.89[YRI][hapmap];0.83[AMR][1000 genomes]
rs2133601	0.88[CEU][hapmap];0.87[CHB][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes]
rs2140335	0.88[CEU][hapmap];0.88[CHB][hapmap];0.92[YRI][hapmap];0.83[AMR][1000 genomes]
rs2280567	0.88[CEU][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2291903	0.85[JPT][hapmap]
rs2293226	0.88[CEU][hapmap];0.88[CHB][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2882611	0.89[CEU][hapmap];0.84[CHB][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes]
rs34351471	0.82[AMR][1000 genomes]
rs34616865	0.82[EUR][1000 genomes]
rs35148469	0.82[AMR][1000 genomes]
rs35167544	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35533636	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35698005	0.83[AMR][1000 genomes]
rs3732530	0.88[CEU][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs3755637	0.96[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3755638	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3772403	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4274776	0.88[CEU][hapmap];0.88[CHB][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4858801	0.81[CEU][hapmap];0.88[CHB][hapmap];0.89[YRI][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4858835	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4858836	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4858842	0.88[CEU][hapmap];0.88[CHB][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4858846	0.88[CEU][hapmap];0.88[CHB][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes]
rs4858851	0.88[CEU][hapmap];0.82[CHB][hapmap]
rs4858857	0.81[AMR][1000 genomes]
rs56746603	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs60110914	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60322343	0.88[EUR][1000 genomes]
rs60992717	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61181421	0.81[AMR][1000 genomes]
rs61620099	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61675361	0.84[EUR][1000 genomes]
rs6442070	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6442071	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6442072	0.87[AMR][1000 genomes]
rs6442074	0.81[AMR][1000 genomes]
rs6442082	0.92[CEU][hapmap];0.88[CHB][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes]
rs6442083	0.82[AMR][1000 genomes]
rs6442085	0.81[AMR][1000 genomes]
rs6767896	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6767996	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6768699	0.88[CEU][hapmap];0.87[CHB][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes]
rs6772301	0.92[CEU][hapmap];0.88[CHB][hapmap];0.83[YRI][hapmap];0.81[AMR][1000 genomes]
rs6774170	0.88[CEU][hapmap];0.87[CHB][hapmap];0.89[YRI][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6777632	0.89[CEU][hapmap];0.88[CHB][hapmap];0.89[YRI][hapmap];0.83[AMR][1000 genomes]
rs6780080	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6780395	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6782707	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6784946	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6785669	0.88[CEU][hapmap];0.82[CHB][hapmap]
rs6786001	0.88[CEU][hapmap];0.88[CHB][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes]
rs6789835	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6792350	0.82[AMR][1000 genomes]
rs6792497	0.89[CEU][hapmap];0.88[CHB][hapmap];0.89[YRI][hapmap]
rs6792737	0.82[AMR][1000 genomes]
rs6806860	0.83[CEU][hapmap];0.88[CHB][hapmap];0.88[YRI][hapmap];0.82[AMR][1000 genomes]
rs7429162	0.88[CEU][hapmap];0.88[CHB][hapmap]
rs7612219	0.82[AMR][1000 genomes]
rs7613934	0.88[CEU][hapmap];0.88[CHB][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes]
rs7618758	0.88[CEU][hapmap];0.81[CHB][hapmap];0.85[YRI][hapmap];0.82[AMR][1000 genomes]
rs7621236	0.88[CEU][hapmap];0.88[CHB][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes]
rs7624474	0.88[CEU][hapmap];0.88[CHB][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes]
rs7631950	0.88[CEU][hapmap];0.88[CHB][hapmap];0.89[YRI][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7637372	0.83[AMR][1000 genomes]
rs7638103	0.88[CEU][hapmap];0.87[CHB][hapmap]
rs7642691	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7645846	0.85[CEU][hapmap];0.88[CHB][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes]
rs868255	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs869508	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs870622	0.88[CEU][hapmap];0.88[CHB][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs883661	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs883662	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs883663	0.88[CEU][hapmap];0.88[CHB][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9311409	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9681917	0.88[CEU][hapmap];0.88[CHB][hapmap]
rs9757517	0.81[AMR][1000 genomes]
rs9820051	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9835605	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs6785031	MRPS18AP1	cis	Nerve Tibial	GTEx
rs6785031	ZNF589	cis	Nerve Tibial	GTEx
rs6785031	DHX30	Cis_1M	lymphoblastoid	RTeQTL
rs6785031	MRPS18AP1	cis	lung	GTEx
rs6785031	MRPS18AP1	cis	Muscle Skeletal	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47584200-47607800	Weak transcription	Brain Germinal Matrix	brain
2	chr3:47594600-47596400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr3:47594600-47596600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr3:47595000-47596800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:47595200-47602800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:47595200-47605400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:47595200-47605600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr3:47595200-47612600	Weak transcription	Brain Substantia Nigra	brain
9	chr3:47595400-47606600	Weak transcription	Brain Hippocampus Middle	brain
10	chr3:47595800-47596200	Enhancers	H1 Cell Line	embryonic stem cell

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